Facioscapulohumeral Muscular Dystrophy

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Facioscapulohumeral Muscular Dystrophy is not the name you expected.

Disorder Subdivisions

None

General Discussion

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood.

The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an impaired ability to completely close the eyes, limited movements of the lips, and difficulties raising the arms over the head. Affected individuals may also eventually develop weakness and associated wasting (atrophy) of muscles of the hips and thighs and/or involvement of lower leg muscles.

Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family (kindred).

FSHD is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder. In some of these cases, FSHD may be due to new genetic changes (mutations) that appear to occur spontaneously for unknown reasons (sporadically).

Supporting Organizations

Child Neurology Foundation

201 Chicago Ave, #200

Minneapolis, MN 55415

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Website: http://www.childneurologyfoundation.org

European Alliance of Neuromuscular Disorders Associations

Linhartova 1

SI-1000 Ljubljana

Slovenia, GAR 04

Malta

Tel: 386 (0)1 47 20 500

Email: info@eamda.eu

Website: http://www.eamda.eu/

FSH Society, Inc.

450 Bedford Street

Lexington, MA 2420

Tel: (781)301-6060

Email: info@fshsociety.org

Website: http://www.fshsociety.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

USA

Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717

Email: mda@mdausa.org

Website: http://www.mda.org/

Muscular Dystrophy Association of New Zealand, Inc.

PO Box 16-238

Sandringham

Auckland,

New Zealand

Tel: 98150247

Fax: 92777540

Tel: 800800337

Email: info@mda.org.nz

Website: http://www.mda.org.nz/

Muscular Dystrophy Australia

111 Boundary Road

North Melbourne

VIC 3051

Australia

Tel: 61393209555

Fax: 61393209595

Tel: 1800656632

Email: info@mda.org.au

Website: http://www.mda.org.au

Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 2078034800

Email: info@muscular-dystrophy.org

Website: http://www.muscular-dystrophy.org

Muscular Dystrophy Canada

2345 Yonge Street Suite 900

Toronto

Ontario, M4P 2E5

Canada

Tel: 4164880030

Fax: 4164887523

Tel: 866MUSCLE8

Email: info@muscle.ca

Website: http://www.muscle.ca

Muscular Dystrophy Ireland

75 Lucan Road

Chapelized

Ireland

Tel: 16236414

Fax: 16208663

Email: info@mdi.ie

Website: http://www.mdi.ie/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

Society for Muscular Dystrophy Information International

P.O. Box 7490

Nova Scotia, B4V 2X6

Canada

Tel: 9026853961

Fax: 9026853962

Email: smdi@auracom.com

Website: http://www.nsnet.org/smdi/

Spina Bifida Hydrocephalus Queensland

PO Box 8022

Woolloongabba

Queensland, 4102

Australia

Tel: (07) 3844 4600

Fax: (07) 3844 4601

Email: info@sbhqueensland.org.au

Website: http://www.spinabifida.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/17/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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